Researchers Identify Gene that Causes Deafness and Myopia

Miller School researchers co-led an international study to identify a new genetic syndrome characterized by deafness, the most common human sensory disorder, and myopia (nearsightedness), the most common human eye disorder. Published online April 1 in the Journal of Clinical Investigation, the study, “SLITRK6 Mutations Cause Myopia and Deafness in Humans and Mice,” demonstrates that the SLITRK6 protein plays a critical role in the development of normal hearing as well as vision in humans and mice, and its disruption leads to a novel syndrome characterized by severe myopia and deafness.

“We hope that identifying a genetic cause of these common sensory problems and a causative link between myopia and hearing loss will lead to better understanding of the mechanism of these disorders and eventually how to better treat them,” said Mustafa Tekin, M.D., associate professor in the Dr. John T. Macdonald Foundation Department of Human Genetics and first author of the paper. Tekin recently was awarded a $3.1 million, five-year grant from the National Institutes of Health to identify genes that cause deafness and are associated with inner ear anomalies.

Myopia affects nearly a billion people worldwide. Previous research has uncovered myopia’s genetic component, but very few studies have demonstrated clear examples of when a single gene defect can cause myopia. In this study, researchers identified three mutations in SLITRK6 that lead to severe myopia and deafness by looking at the molecular makeup of three different families.

The study is a collaborative effort with investigators from 11 universities and research institutions in the United States, the United Kingdom, Japan, Turkey, Greece, and Denmark.

Senior author Andrew Crosby, Ph.D., led the research at St. George’s University of London Centre for Human Genetics, and Jun Aruga, M.D., Ph.D., led research at RIKEN Brain Science Institute Laboratory for Behavioral and Developmental Disorders in Japan.